Sugi Variant

Sugi Variant/CDKN1B

CDKN1B — 1010 ClinVar variants

All ClinVar germline CDKN1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 533 flagged for review →

78 Pathogenic · 8 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 96 Conflicting · 18 Benign · 15 Benign/Likely benign · 195 Likely benign · 585 Uncertain significance

Full CDKN1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 533

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 72

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 380

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 380

Predictors split 77

The independent predictors disagree with each other — read with care.

All CDKN1B variants

Pathogenic 78

  • p.Arg154Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn124_Ser125insTer Multiple submitters hereditary neoplastic syndrome
  • p.Cys99fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln104fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln104Ter Multiple submitters multiple endocrine neoplasia type 4
  • p.Gln107fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln107Ter Multiple submitters multiple endocrine neoplasia type 4
  • p.Gln141Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln163Ter Multiple submitters multiple endocrine neoplasia type 4
  • p.Gln20Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu126Ter Multiple submitters multiple endocrine neoplasia type 4
  • p.Gly97fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu130fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys59Ter Multiple submitters hereditary neoplastic syndrome
  • p.Pro137fs Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser175Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp60Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr89Ter Multiple submitters hereditary neoplastic syndrome
  • p.Val109fs Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala123fs Single submitter multiple endocrine neoplasia type 4
  • p.Arg113fs Single submitter multiple endocrine neoplasia type 4
  • p.Arg15delinsProTer Single submitter multiple endocrine neoplasia type 4
  • p.Arg43fs Single submitter hereditary neoplastic syndrome
  • p.Arg50fs Single submitter hereditary neoplastic syndrome
  • p.Arg93fs Single submitter multiple endocrine neoplasia type 4
  • p.Asn124Ter Single submitter hereditary neoplastic syndrome
  • p.Asn3fs Single submitter multiple endocrine neoplasia type 4
  • p.Asn61fs Single submitter multiple endocrine neoplasia type 4
  • p.Asp127fs Single submitter multiple endocrine neoplasia type 4
  • p.Asp139fs Single submitter multiple endocrine neoplasia type 4
  • p.Asp17fs Single submitter multiple endocrine neoplasia type 4
  • p.Asp63fs Single submitter multiple endocrine neoplasia type 4
  • p.Cys148Ter Single submitter multiple endocrine neoplasia type 4
  • p.Cys29fs Single submitter multiple endocrine neoplasia type 4
  • p.Gln57fs Single submitter hereditary neoplastic syndrome
  • p.Glu171Ter Single submitter hereditary neoplastic syndrome
  • p.Glu172Ter Single submitter hereditary neoplastic syndrome
  • p.Glu46Ter Single submitter multiple endocrine neoplasia type 4
  • p.Glu53fs Single submitter hereditary neoplastic syndrome
  • p.Glu71fs Single submitter multiple endocrine neoplasia type 4
  • p.Glu75Ter Single submitter multiple endocrine neoplasia type 4
  • p.Glu78fs Single submitter hereditary neoplastic syndrome
  • p.Glu80fs Single submitter multiple endocrine neoplasia type 4
  • p.Glu86fs Single submitter hereditary neoplastic syndrome
  • p.Gly143_Leu144insTer Single submitter hereditary neoplastic syndrome
  • p.Gly150Ter Single submitter multiple endocrine neoplasia type 4
  • p.Gly72fs Single submitter multiple endocrine neoplasia type 4
  • p.Gly82fs Single submitter hereditary neoplastic syndrome
  • p.His129fs Single submitter multiple endocrine neoplasia type 4
  • p.His67fs Single submitter hereditary neoplastic syndrome
  • p.Leu144Ter Single submitter multiple endocrine neoplasia type 4
  • p.Leu70fs Single submitter hereditary neoplastic syndrome
  • p.Leu84Ter Single submitter multiple endocrine neoplasia type 4
  • p.Lys47fs Single submitter hereditary neoplastic syndrome
  • p.Lys59fs Single submitter multiple endocrine neoplasia type 4
  • p.Lys68fs Single submitter hereditary neoplastic syndrome
  • p.Lys73Ter Single submitter multiple endocrine neoplasia type 4
  • p.Phe62fs Single submitter multiple endocrine neoplasia type 4
  • p.Phe87fs Single submitter multiple endocrine neoplasia type 4
  • p.Pro133fs Single submitter multiple endocrine neoplasia type 4
  • p.Pro26fs Single submitter hereditary neoplastic syndrome
  • p.Pro35fs Single submitter multiple endocrine neoplasia type 4
  • p.Pro69_Leu70insTer Single submitter hereditary neoplastic syndrome
  • p.Pro91fs Single submitter multiple endocrine neoplasia type 4
  • p.Pro92fs Single submitter multiple endocrine neoplasia type 4
  • p.Pro94fs Single submitter hereditary neoplastic syndrome
  • p.Ser106fs Single submitter multiple endocrine neoplasia type 4
  • p.Ser125fs Single submitter multiple endocrine neoplasia type 4
  • p.Ser27fs Single submitter multiple endocrine neoplasia type 4
  • p.Ser56fs Single submitter hereditary neoplastic syndrome
  • p.Ser83fs Single submitter hereditary neoplastic syndrome
  • p.Trp60fs Single submitter hereditary neoplastic syndrome
  • p.Trp76Ter Single submitter multiple endocrine neoplasia type 4
  • p.Tyr74Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr89_Arg90delinsTer Single submitter multiple endocrine neoplasia type 4
  • p.Val101fs Single submitter multiple endocrine neoplasia type 4
  • p.Val36fs Single submitter hereditary neoplastic syndrome
  • p.Val6fs Single submitter multiple endocrine neoplasia type 4

Pathogenic/Likely pathogenic 8

  • p.Arg5Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn8Ter Multiple submitters multiple endocrine neoplasia type 4
  • p.Asp51fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln57Ter Multiple submitters CDKN1B-related disorder
  • p.Gln77Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu39Ter Multiple submitters multiple endocrine neoplasia type 4
  • p.Lys96fs Multiple submitters multiple endocrine neoplasia type 4
  • p.Phe33fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 15

  • c.476-18A>G Single submitter multiple endocrine neoplasia type 4
  • c.476-1G>C Single submitter hereditary neoplastic syndrome
  • c.476-1G>T Single submitter hereditary neoplastic syndrome
  • p.Arg5fs Single submitter hereditary neoplastic syndrome
  • p.Asn8fs Single submitter multiple endocrine neoplasia type 4
  • p.Glu40Ter Single submitter hereditary neoplastic syndrome
  • p.Glu54Ter Single submitter multiple endocrine neoplasia type 4
  • p.Lys68Ter Single submitter
  • p.Pro114fs Single submitter
  • p.Ser10fs Single submitter hereditary neoplastic syndrome
  • p.Ser2Ter Single submitter hereditary neoplastic syndrome
  • p.Ser7fs Single submitter multiple endocrine neoplasia type 4
  • p.Trp76fs Single submitter multiple endocrine neoplasia type 4
  • p.Arg43Ter No assertion criteria neuroendocrine neoplasm
  • p.Ser112fs No assertion criteria neuroendocrine neoplasm

Conflicting classifications of pathogenicity 96

Benign 18

  • c.-126C>T Multiple submitters multiple endocrine neoplasia type 4
  • c.-266C>G Multiple submitters multiple endocrine neoplasia type 4
  • c.-79T>C Multiple submitters multiple endocrine neoplasia type 4
  • c.*9-9C>G Multiple submitters hereditary neoplastic syndrome
  • c.*956C>A Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala55= Multiple submitters hereditary neoplastic syndrome
  • p.Glu86= Multiple submitters hereditary neoplastic syndrome
  • p.Val109Gly Multiple submitters hereditary neoplastic syndrome
  • c.-254C>G Single submitter multiple endocrine neoplasia type 4
  • c.-411T>C Single submitter multiple endocrine neoplasia type 4
  • c.*173T>C Single submitter multiple endocrine neoplasia type 4
  • c.*501G>A Single submitter multiple endocrine neoplasia type 4
  • c.*610T>A Single submitter multiple endocrine neoplasia type 4
  • c.*833T>A Single submitter multiple endocrine neoplasia type 4
  • c.*9-222T>C Single submitter
  • c.*96C>G Single submitter multiple endocrine neoplasia type 4
  • p.Ile119Asn Single submitter hereditary neoplastic syndrome
  • p.Pro117Ser Single submitter hereditary neoplastic syndrome

Benign/Likely benign 15

  • c.475+10C>T Multiple submitters multiple endocrine neoplasia type 4
  • c.475+5T>C Multiple submitters hereditary neoplastic syndrome
  • c.476-13C>T Multiple submitters multiple endocrine neoplasia type 4
  • c.476-5C>T Multiple submitters multiple endocrine neoplasia type 4
  • c.476-6_476-5delinsAT Multiple submitters hereditary neoplastic syndrome
  • c.476-6G>A Multiple submitters multiple endocrine neoplasia type 4
  • c.*181T>C Multiple submitters multiple endocrine neoplasia type 4
  • p.Arg93Trp Multiple submitters multiple endocrine neoplasia type 4
  • p.Glu78= Multiple submitters multiple endocrine neoplasia type 4
  • p.Gly82= Multiple submitters hereditary neoplastic syndrome
  • p.His38= Multiple submitters hereditary neoplastic syndrome
  • p.Leu193Phe Multiple submitters hereditary nonpolyposis colon cancer
  • p.Ser125Thr Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser56= Multiple submitters multiple endocrine neoplasia type 4
  • p.Thr142= Multiple submitters multiple endocrine neoplasia type 4

Likely benign 195

  • c.476-10C>T Multiple submitters multiple endocrine neoplasia type 4
  • c.-202C>T Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala103= Multiple submitters hereditary neoplastic syndrome
  • p.Ala115= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala116= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala121= Multiple submitters hereditary neoplastic syndrome
  • p.Ala123= Multiple submitters hereditary neoplastic syndrome
  • p.Ala145= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala167= Multiple submitters hereditary neoplastic syndrome
  • p.Ala181= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala21= Multiple submitters hereditary neoplastic syndrome
  • p.Ala98= Multiple submitters hereditary neoplastic syndrome
  • p.Arg113= Multiple submitters multiple endocrine neoplasia type 4
  • p.Arg15= Multiple submitters hereditary neoplastic syndrome
  • p.Arg152= Multiple submitters hereditary neoplastic syndrome
  • p.Arg154= Multiple submitters multiple endocrine neoplasia type 4
  • p.Arg169= Multiple submitters hereditary neoplastic syndrome
  • p.Arg30= Multiple submitters multiple endocrine neoplasia type 4
  • p.Arg50= Multiple submitters hereditary neoplastic syndrome
  • p.Arg58= Multiple submitters multiple endocrine neoplasia type 4
  • p.Asn3= Multiple submitters multiple endocrine neoplasia type 4
  • p.Asn31= Multiple submitters hereditary neoplastic syndrome
  • p.Asn8= Multiple submitters multiple endocrine neoplasia type 4
  • p.Asp132= Multiple submitters hereditary neoplastic syndrome
  • p.Asp158= Multiple submitters hereditary neoplastic syndrome
  • p.Asp17= Multiple submitters multiple endocrine neoplasia type 4
  • p.Asp176= Multiple submitters multiple endocrine neoplasia type 4
  • p.Asp51= Multiple submitters multiple endocrine neoplasia type 4
  • p.Cys148= Multiple submitters hereditary neoplastic syndrome
  • p.Cys29= Multiple submitters hereditary neoplastic syndrome
  • p.Cys49= Multiple submitters hereditary neoplastic syndrome
  • p.Cys99= Multiple submitters hereditary neoplastic syndrome
  • p.Gln141= Multiple submitters hereditary neoplastic syndrome
  • p.Gln147= Multiple submitters multiple endocrine neoplasia type 4
  • p.Gln186= Multiple submitters hereditary neoplastic syndrome
  • p.Gln20= Multiple submitters hereditary neoplastic syndrome
  • p.Gln65= Multiple submitters hereditary neoplastic syndrome
  • p.Gln77= Multiple submitters hereditary neoplastic syndrome
  • p.Glu14= Multiple submitters multiple endocrine neoplasia type 4
  • p.Glu146= Multiple submitters hereditary neoplastic syndrome
  • p.Glu39= Multiple submitters hereditary neoplastic syndrome
  • p.Glu40= Multiple submitters hereditary neoplastic syndrome
  • p.Glu46= Multiple submitters hereditary neoplastic syndrome
  • p.Glu71= Multiple submitters multiple endocrine neoplasia type 4
  • p.Glu75= Multiple submitters hereditary neoplastic syndrome
  • p.Glu80= Multiple submitters multiple endocrine neoplasia type 4
  • p.Gly120= Multiple submitters hereditary neoplastic syndrome
  • p.Gly143= Multiple submitters hereditary neoplastic syndrome
  • p.Gly177= Multiple submitters hereditary neoplastic syndrome
  • p.Gly34= Multiple submitters hereditary neoplastic syndrome
  • p.His129= Multiple submitters hereditary neoplastic syndrome
  • p.His48= Multiple submitters multiple endocrine neoplasia type 4
  • p.His67= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ile119= Multiple submitters hereditary neoplastic syndrome
  • p.Leu13= Multiple submitters hereditary neoplastic syndrome
  • p.Leu130= Multiple submitters multiple endocrine neoplasia type 4
  • p.Leu193= Multiple submitters multiple endocrine neoplasia type 4
  • p.Leu32= Multiple submitters hereditary neoplastic syndrome
  • p.Leu41= Multiple submitters multiple endocrine neoplasia type 4
  • p.Leu45= Multiple submitters multiple endocrine neoplasia type 4
  • p.Leu70= Multiple submitters hereditary neoplastic syndrome
  • p.Leu84= Multiple submitters hereditary neoplastic syndrome
  • p.Lys100= Multiple submitters hereditary neoplastic syndrome
  • p.Lys153= Multiple submitters hereditary neoplastic syndrome
  • p.Lys165= Multiple submitters hereditary neoplastic syndrome
  • p.Lys189= Multiple submitters hereditary neoplastic syndrome
  • p.Lys190= Multiple submitters hereditary neoplastic syndrome
  • p.Lys25= Multiple submitters hereditary neoplastic syndrome
  • p.Lys59= Multiple submitters multiple endocrine neoplasia type 4
  • p.Lys73= Multiple submitters hereditary neoplastic syndrome
  • p.Phe87= Multiple submitters hereditary neoplastic syndrome
  • p.Pro102= Multiple submitters multiple endocrine neoplasia type 4
  • p.Pro114= Multiple submitters multiple endocrine neoplasia type 4
  • p.Pro137= Multiple submitters hereditary neoplastic syndrome
  • p.Pro188= Multiple submitters hereditary neoplastic syndrome
  • p.Pro26= Multiple submitters multiple endocrine neoplasia type 4
  • p.Pro35= Multiple submitters hereditary neoplastic syndrome
  • p.Pro85= Multiple submitters multiple endocrine neoplasia type 4
  • p.Pro91= Multiple submitters hereditary neoplastic syndrome
  • p.Pro92= Multiple submitters hereditary neoplastic syndrome
  • p.Pro94= Multiple submitters multiple endocrine neoplasia type 4
  • p.Pro95= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser10= Multiple submitters hereditary neoplastic syndrome
  • p.Ser106= Multiple submitters hereditary neoplastic syndrome
  • p.Ser110= Multiple submitters hereditary neoplastic syndrome
  • p.Ser112= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser12= Multiple submitters hereditary neoplastic syndrome
  • p.Ser125= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser138= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser140= Multiple submitters hereditary neoplastic syndrome
  • p.Ser2= Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser27= Multiple submitters hereditary neoplastic syndrome
  • p.Ser83= Multiple submitters hereditary neoplastic syndrome
  • p.Thr128= Multiple submitters hereditary neoplastic syndrome
  • p.Thr135= Multiple submitters multiple endocrine neoplasia type 4
  • p.Thr162= Multiple submitters multiple endocrine neoplasia type 4
  • p.Thr187= Multiple submitters hereditary neoplastic syndrome
  • p.Thr42= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr74= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr88= Multiple submitters hereditary neoplastic syndrome
  • p.Val131= Multiple submitters hereditary neoplastic syndrome
  • p.Val6= Multiple submitters hereditary neoplastic syndrome
  • c.475+10C>A Single submitter multiple endocrine neoplasia type 4
  • c.475+11T>C Single submitter multiple endocrine neoplasia type 4
  • c.475+12_475+13insA Single submitter multiple endocrine neoplasia type 4
  • c.475+12T>A Single submitter multiple endocrine neoplasia type 4
  • c.475+12T>C Single submitter multiple endocrine neoplasia type 4
  • c.475+13del Single submitter multiple endocrine neoplasia type 4
  • c.475+13dup Single submitter multiple endocrine neoplasia type 4
  • c.475+13T>C Single submitter multiple endocrine neoplasia type 4
  • c.475+15C>T Single submitter multiple endocrine neoplasia type 4
  • c.475+16C>A Single submitter multiple endocrine neoplasia type 4
  • c.475+16C>G Single submitter multiple endocrine neoplasia type 4
  • c.475+16C>T Single submitter multiple endocrine neoplasia type 4
  • c.475+171T>G Single submitter
  • c.475+18A>T Single submitter multiple endocrine neoplasia type 4
  • c.475+20C>G Single submitter multiple endocrine neoplasia type 4
  • c.475+30_475+31del Single submitter
  • c.475+7A>C Single submitter multiple endocrine neoplasia type 4
  • c.475+7A>G Single submitter multiple endocrine neoplasia type 4
  • c.475+7A>T Single submitter multiple endocrine neoplasia type 4
  • c.475+8C>T Single submitter multiple endocrine neoplasia type 4
  • c.475+9C>A Single submitter multiple endocrine neoplasia type 4
  • c.475+9C>G Single submitter multiple endocrine neoplasia type 4
  • c.475+9C>T Single submitter multiple endocrine neoplasia type 4
  • c.476-11C>T Single submitter multiple endocrine neoplasia type 4
  • c.476-12C>T Single submitter multiple endocrine neoplasia type 4
  • c.476-14T>C Single submitter multiple endocrine neoplasia type 4
  • c.476-14T>G Single submitter multiple endocrine neoplasia type 4
  • c.476-15T>C Single submitter multiple endocrine neoplasia type 4
  • c.476-15T>G Single submitter multiple endocrine neoplasia type 4
  • c.476-16T>C Single submitter multiple endocrine neoplasia type 4
  • c.476-18A>T Single submitter multiple endocrine neoplasia type 4
  • c.476-4T>G Single submitter multiple endocrine neoplasia type 4
  • c.476-6G>C Single submitter multiple endocrine neoplasia type 4
  • c.476-6G>T Single submitter multiple endocrine neoplasia type 4
  • c.476-7C>T Single submitter multiple endocrine neoplasia type 4
  • c.476-8G>A Single submitter multiple endocrine neoplasia type 4
  • p.Ala123Ser Single submitter hereditary neoplastic syndrome
  • p.Ala149= Single submitter hereditary neoplastic syndrome
  • p.Ala156= Single submitter hereditary neoplastic syndrome
  • p.Arg19= Single submitter
  • p.Arg196= Single submitter hereditary neoplastic syndrome
  • p.Arg43= Single submitter hereditary neoplastic syndrome
  • p.Arg5= Single submitter multiple endocrine neoplasia type 4
  • p.Asn168= Single submitter multiple endocrine neoplasia type 4
  • p.Asn173= Single submitter hereditary neoplastic syndrome
  • p.Asn180= Single submitter multiple endocrine neoplasia type 4
  • p.Asp108= Single submitter hereditary neoplastic syndrome
  • p.Asp127= Single submitter multiple endocrine neoplasia type 4
  • p.Asp159= Single submitter hereditary neoplastic syndrome
  • p.Asp37= Single submitter hereditary neoplastic syndrome
  • p.Asp44= Single submitter hereditary neoplastic syndrome
  • p.Asp63= Single submitter hereditary neoplastic syndrome
  • p.Gln57= Single submitter hereditary neoplastic syndrome
  • p.Glu172= Single submitter multiple endocrine neoplasia type 4
  • p.Glu185= Single submitter multiple endocrine neoplasia type 4
  • p.Glu54= Single submitter multiple endocrine neoplasia type 4
  • p.Gly111= Single submitter hereditary neoplastic syndrome
  • p.Gly182= Single submitter multiple endocrine neoplasia type 4
  • p.Gly192= Single submitter hereditary neoplastic syndrome
  • p.Gly72= Single submitter hereditary neoplastic syndrome
  • p.Gly9= Single submitter hereditary neoplastic syndrome
  • p.Lys47Arg Single submitter hereditary neoplastic syndrome
  • p.Lys81= Single submitter hereditary neoplastic syndrome
  • p.Phe62= Single submitter multiple endocrine neoplasia type 4
  • p.Phe64= Single submitter multiple endocrine neoplasia type 4
  • p.Pro11= Single submitter hereditary neoplastic syndrome
  • p.Pro122= Single submitter hereditary neoplastic syndrome
  • p.Pro122Gln Single submitter hereditary neoplastic syndrome
  • p.Pro133= Single submitter multiple endocrine neoplasia type 4
  • p.Pro155= Single submitter hereditary neoplastic syndrome
  • p.Pro179= Single submitter multiple endocrine neoplasia type 4
  • p.Pro191= Single submitter multiple endocrine neoplasia type 4
  • p.Pro191Ala Single submitter hereditary neoplastic syndrome
  • p.Pro24= Single submitter multiple endocrine neoplasia type 4
  • p.Pro69= Single submitter hereditary neoplastic syndrome
  • p.Ser106Gly Single submitter hereditary neoplastic syndrome
  • p.Ser140Arg Single submitter hereditary neoplastic syndrome
  • p.Ser161= Single submitter multiple endocrine neoplasia type 4
  • p.Ser178= Single submitter hereditary neoplastic syndrome
  • p.Ser183= Single submitter hereditary neoplastic syndrome
  • p.Ser7= Single submitter
  • p.Thr157= Single submitter multiple endocrine neoplasia type 4
  • p.Thr157Asn Single submitter hereditary neoplastic syndrome
  • p.Thr170= Single submitter multiple endocrine neoplasia type 4
  • p.Thr198= Single submitter multiple endocrine neoplasia type 4
  • p.Val101= Single submitter hereditary neoplastic syndrome
  • p.Val109= Single submitter hereditary neoplastic syndrome
  • p.Val184= Single submitter hereditary neoplastic syndrome
  • p.Val36= Single submitter multiple endocrine neoplasia type 4
  • p.Val4= Single submitter multiple endocrine neoplasia type 4
  • p.Val79= Single submitter hereditary neoplastic syndrome
  • c.-10C>G No assertion criteria CDKN1B-related disorder
  • c.-20C>T No assertion criteria CDKN1B-related disorder

Uncertain significance 585

Showing the top 300 by review status; the full set is in the sitemap.

  • c.-73G>A Multiple submitters multiple endocrine neoplasia type 4
  • c.-7G>C Multiple submitters hereditary neoplastic syndrome
  • p.Ala103Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala115Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala116Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala121Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala123Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala145Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala145Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala149fs Multiple submitters multiple endocrine neoplasia type 4
  • p.Ala149Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala156Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala156Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala167Ser Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala181Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala181Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala18Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala18Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala21Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala21Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala28Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala28Val Multiple submitters hereditary neoplastic syndrome
  • p.Ala98Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala98Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ala98Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Arg113Cys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Arg113His Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Arg113Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Arg152Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg15Trp Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Arg166Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg194Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg195Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg196Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg196His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg196Ser Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Arg19Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg50Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg58Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg58Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg58Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg5Gln Multiple submitters multiple endocrine neoplasia type 4
  • p.Arg5Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Arg93Gln Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asn124Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn124Lys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asn164Lys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asn168Ile Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asn168Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asn180Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn31Lys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asn3Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn3Lys Multiple submitters multiple endocrine neoplasia type 4
  • p.Asn61His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn61Lys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asn66Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn8Tyr Multiple submitters multiple endocrine neoplasia type 4
  • p.Asp127Tyr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asp132Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp132His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp132Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp136Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp139Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp158Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp158Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp158His Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asp159Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp159Glu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asp159Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp176Asn Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asp37Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp37Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asp44Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp44Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp44His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp44Tyr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Asp51Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp51Tyr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Cys148Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Cys148Trp Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Cys29Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys49Trp Multiple submitters hereditary neoplastic syndrome
  • p.Cys99Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln104Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln163Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln197Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gln197Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln20His Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gln57Pro Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gln65Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln65Glu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gln65Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gln77Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu105Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu146Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu146Lys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu14Gln Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu14Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu14Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu171Asp Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu171Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu172del Multiple submitters multiple endocrine neoplasia type 4
  • p.Glu172Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu172Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu185Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu22Gln Multiple submitters multiple endocrine neoplasia type 4
  • p.Glu39Gln Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu39Lys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu54Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu54Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu54Lys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu71Gln Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu71Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu75Gly Multiple submitters hereditary neoplastic syndrome
  • p.Glu75Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu75Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu78Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu78Gln Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu78Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu80del Multiple submitters hereditary neoplastic syndrome
  • p.Glu80Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu80Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu80Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Glu86Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly111Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly120Ala Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gly120Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly143Glu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gly143Trp Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Gly177Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly192fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly192Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly34Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly72Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly82Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.His129Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His129Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His23Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His48Arg Multiple submitters hereditary neoplastic syndrome
  • p.His48Pro Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.His67Asp Multiple submitters hereditary neoplastic syndrome
  • p.His67Gln Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.His67Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ile151Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu118Ser Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Leu118Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Leu130Met Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Leu13Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu193Ile Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Leu32Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu45Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu70Val Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Leu84_Pro85delinsPheSer Multiple submitters multiple endocrine neoplasia type 4
  • p.Leu84Phe Multiple submitters multiple endocrine neoplasia type 4
  • p.Lys100Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys100Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys100Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys190Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Lys59Asn Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Lys68Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys96Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Lys96Glu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Met16Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met16Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met52Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe33Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe62Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe64Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro102Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro114Ala Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro114Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro11Ala Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro11Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro11Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro133Ala Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro133Ser Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro137Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro137Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro155Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro155Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro179Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro179Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro191Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro191Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro191Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro24Arg Multiple submitters multiple endocrine neoplasia type 4
  • p.Pro24Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro24Ser Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro26Leu Multiple submitters hereditary neoplastic syndrome
  • p.Pro26Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro35Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro69Ala Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro69His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro69Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro85Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro85Ser Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro91Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro91His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro91Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro92Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro94His Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Pro95Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro95His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro95Ser Multiple submitters Familial hyperparathyroidism or Hypocalciuric hypercalcaemia ⚠
  • p.Ser106Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser10Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser10Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser10del Multiple submitters hereditary neoplastic syndrome
  • p.Ser10Thr Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser110_Arg113del Multiple submitters multiple endocrine neoplasia type 4
  • p.Ser110Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser110Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser112Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser12Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser12Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser12Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser138Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser160Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser160Pro Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser160Thr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser160Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser161Pro Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser175Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser178Phe Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser178Tyr Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser183Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser27Leu Multiple submitters hereditary neoplastic syndrome
  • p.Ser2Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser56Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser56Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser7Cys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser83Arg Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Ser83Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser83Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr128Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr135Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr135Pro Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Thr142Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr157Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr157Ile Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Thr162Ala Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Thr198Arg Multiple submitters hereditary neoplastic syndrome
  • p.Thr198Lys Multiple submitters hereditary neoplastic syndrome
  • p.Thr198Met Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Thr198Pro Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Thr42Ala Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Thr42Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Trp76Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr74Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr88Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr89Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr89Cys Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Tyr89del Multiple submitters hereditary neoplastic syndrome
  • p.Tyr89His Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Val109Ile Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Val109Ser Multiple submitters hereditary neoplastic syndrome
  • p.Val131Gly Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Val174Ile Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Val184Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val184Met Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Val36Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val4Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val4Met Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Val6Leu Multiple submitters multiple endocrine neoplasia type 4 ⚠
  • p.Val6Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val79Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • c.475+1G>A Single submitter multiple endocrine neoplasia type 4
  • c.475+2T>A Single submitter multiple endocrine neoplasia type 4
  • c.475+2T>C Single submitter multiple endocrine neoplasia type 4
  • c.475+3A>T Single submitter multiple endocrine neoplasia type 4
  • c.475+4A>G Single submitter multiple endocrine neoplasia type 4
  • c.475+5T>A Single submitter hereditary neoplastic syndrome
  • c.476-17A>G Single submitter multiple endocrine neoplasia type 4
  • c.476-2_491del Single submitter multiple endocrine neoplasia type 4
  • c.476-20A>G Single submitter multiple endocrine neoplasia type 4
  • c.476-6_476-5delinsAG Single submitter multiple endocrine neoplasia type 4
  • c.476-6_482del Single submitter multiple endocrine neoplasia type 4
  • c.476-7C>A Single submitter multiple endocrine neoplasia type 4
  • c.476-9T>A Single submitter multiple endocrine neoplasia type 4
  • c.-17G>A Single submitter
  • c.-222C>T Single submitter multiple endocrine neoplasia type 4
  • c.-226C>T Single submitter multiple endocrine neoplasia type 4
  • c.-24C>T Single submitter
  • c.-26G>C Single submitter
  • c.-2A>G Single submitter hereditary neoplastic syndrome
  • c.-32G>A Single submitter
  • c.-336A>G Single submitter multiple endocrine neoplasia type 4
  • c.-36G>C Single submitter
  • c.-371C>T Single submitter multiple endocrine neoplasia type 4
  • c.-374G>A Single submitter multiple endocrine neoplasia type 4
  • c.-386C>G Single submitter multiple endocrine neoplasia type 4
  • c.-386C>T Single submitter multiple endocrine neoplasia type 4
  • c.-423G>A Single submitter multiple endocrine neoplasia type 4
  • c.-454_-451del Single submitter hereditary neoplastic syndrome
  • c.-4A>G Single submitter hereditary neoplastic syndrome
  • c.-5G>T Single submitter hereditary neoplastic syndrome
  • c.-7G>T Single submitter multiple endocrine neoplasia type 4
  • c.-9G>A Single submitter
  • c.*1024G>C Single submitter multiple endocrine neoplasia type 4
  • c.*1073C>T Single submitter multiple endocrine neoplasia type 4